Canonical Allele Identifier: CA340206472

Gene: UQCRH

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.46310228T>G , CM000663.2:g.46310228T>G	GRCh38
NC_000001.10:g.46775900T>G , CM000663.1:g.46775900T>G	GRCh37
NC_000001.9:g.46548487T>G	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000311672.10:c.155T>G MANE Select	ENSP00000309565.5:p.Leu52Arg
ENST00000311672.9:c.155T>G	ENSP00000309565.5:p.Leu52Arg
ENST00000460947.1:n.308T>G
ENST00000489056.5:c.171T>G	ENSP00000484857.1:p.Ala57=
ENST00000496387.5:c.303T>G	ENSP00000477826.1:p.Ala101=
NM_001297565.1:c.137T>G	NP_001284494.1:p.Leu46Arg
NM_001297566.1:c.128T>G	NP_001284495.1:p.Leu43Arg
NM_006004.3:c.155T>G	NP_005995.2:p.Leu52Arg
NM_006004.4:c.155T>G MANE Select	NP_005995.2:p.Leu52Arg
NM_001297565.2:c.137T>G	NP_001284494.1:p.Leu46Arg
NM_001297566.2:c.128T>G	NP_001284495.1:p.Leu43Arg